Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 682
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 401
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 238
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 199
C0028077 Nyctalopia disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 158
C0234632 Reduced visual acuity phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 147
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 60
C1298695 Hypoplasia of optic disc disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the eye 30
C4024756 Abnormality of macular pigmentation disease Anatomical Abnormality Abnormality of the eye 25
C0339535 Night blindness, congenital stationary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 19
C3151193 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D disease Disease or Syndrome genetic disease; disease of anatomical entity 1